Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624479A>C , CM000679.2:g.41624479A>C | GRCh38 |
| NC_000017.10:g.39780731A>C , CM000679.1:g.39780731A>C | GRCh37 |
| NC_000017.9:g.37034257A>C | NCBI36 |
| NG_008625.1:g.5152T>G | |
| NG_009090.2:g.167234T>G , LRG_401:g.167234T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.31T>G MANE Select | ENSP00000308452.8:p.Ser11Ala | |
| ENST00000311208.12:c.31T>G | ENSP00000308452.8:p.Ser11Ala | |
| ENST00000463128.5:c.-313+264T>G | ENSP00000468672.1:n.-313+264T>G | |
| ENST00000491673.1:n.97T>G | ||
| ENST00000540235.5:c.-175T>G | ENSP00000441751.2:n.-175T>G | |
| NM_000422.2:c.31T>G | NP_000413.1:p.Ser11Ala | |
| NM_000422.3:c.31T>G MANE Select | NP_000413.1:p.Ser11Ala |